POS0172 DIFFUSE JUVENILE SYSTEMIC SCLEROSIS PATIENTS SHOW DISTINCT ORGAN INVOLVEMENT AND HAVE MORE SEVERE DISEASE IN THE LARGEST jSSc COHORT OF THE WORLD. RESULTS FROM THE THE JUVENILE SCLERODERMA INCEPTION COHORT. www.juvenile-scleroderma.com
Authors: I. Foeldvari, J. Klotsche, O. Kasapcopur, A. Adrovic, K. Torok, M. T. Terreri, A. P. Sakamoto, B. Feldman, F. R. Sztajnbok, V. Stanevicha, J. Anton, S. Johnson, R. Khubchandani, E. Alexeeva, M. Katsikas, S. Sawhney, V. Smith, S. Appenzeller, T. Avcin, M. Kostik, T. Lehman, H. Malcova, E. Marrani, C. Pain, D. Schonenberg, W. A. Sifuentes-Giraldo, N. Vasquez-Canizares, P. Costa Reis, M. Janarthanan, M. Moll, D. Nemcova, A. Patwardhan, M. J. Santos, S. Abu Al Saoud, C. Battagliotti, L. Berntson, B. Bica, J. Brunner, R. Cimaz, D. Eleftheriou, L. Harel, G. Horneff, D. Kaiser, T. Kallinich, D. Lazarevic, K. Minden, S. Nielsen, F. Nuruzzaman, S. Opsahl Hetlevik, Y. Uziel, N. Helmus
Journal: Annals of the Rheumatic Diseases (2022)

Background Juvenile systemic sclerosis (jSSc) is an orphan disease with a prevalence of 3 in 1 000 000 children (1). In adult patients there are significant differences between the clinical presentation of diffuse and limited subtypes (2). We reviewed clinical differences in presentation of subtypes in patients in the juvenile systemic scleroderma inception cohort up to 2021. Objectives To study the clinical presentation of jSSc patients with diffuse (djSSc) and limited (ljSSc) subtypes. Methods We reviewed the clinical baseline characteristics of the patients, who were recruited to the juvenile scleroderma inception cohort (jSScC) (3, 4) till 1 st of December 2021. jSScC is a prospective cohort of jSSc patients, who developed the first non-Raynaud´s symptom before the age of 16 years and are under the age of 18 years at the time of inclusion. Results 210 patients with jSSc were included in the cohort, 71% (n=162) had diffuse subtype. The median age at onset of Raynaud phenomenon was 10.4 years (7.3 – 12.9) and the median age at the first non-Raynaud symptom was 10.9 years (7.4 – 13.2). Median disease duration was 2.5 years (1 – 4.4) at the time of inclusion. The female/male ratio was significantly lower in the djSSc subtype (3.7:1 versus 5:1, p&lt;0.001). Antibody profile was quite similar, with the exception of a significantly higher number of anticentromere positive patients in the ljSSc (12% versus 2%, p=0.013). Decreased FVC &lt; 80% was found in approximately 30% and decreased DLCO &lt; 80% was found in around 40% in both subtypes. Pulmonary hypertension assessed by ultrasound was identified in 5% in both groups. Patients with diffuse subtype had significantly higher modified Rodnan Skin Score (mRSS) (16 versus 4.5, p&lt;0.001), sclerodactyly (84% versus 60%, p&lt;0.001), history of digital ulceration (62% versus 31%, p&lt;0.001), decreased Body Mass Index (BMI) &lt; -2 z score (20% versus 4%, p=0.003) and decreased joint range of motion (64% versus 46%, p=0.019). Patients with ljSSc had significantly higher rate of cardiac involvement (13% versus 2%, p=0.001). Regarding patient related outcomes djSSc patients had more severe disease, looking at patient reported global disease activity (VAS 0 – 100) (40 versus 25, p=0.039), patient reported global disease damage (VAS 0 – 100) (40 versus 25, p=0.021) and patient reported assessment of ulceration activity (10 versus 0, p=0.044). Regarding physician related outcomes the physician reported global disease activity (VAS 0 – 100) (32 versus 20, p&lt;0.001) and physician reported global disease damage (VAS 0 – 100) (30 versus 15, p=0.014) was significantly higher in djSSc. Conclusion In this jSSc cohort, the largest in the world, djSSc patients have a significantly more severe disease than ljSSc patients. Interestingly, we found no differences regarding interstitial lung disease and pulmonary hypertension. References [1]Beukelman T, Xie F, Foeldvari I. Assessing the prevalence of juvenile systemic sclerosis in childhood using administrative claims data from the United States. Journal of Scleroderma and Related Disorders. 2018;3(2):189-90. [2]Dougherty DH, Kwakkenbos L, Carrier ME, Salazar G, Assassi S, Baron M, et al. The Scleroderma Patient-Centered Intervention Network Cohort: baseline clinical features and comparison with other large scleroderma cohorts. Rheumatology (Oxford). 2018;57(9):1623-31. [3]Foeldvari I, Klotsche J, Kasapcopur O, Adrovic A, Terreri MT, Sakamoto AP, et al. Differences sustained between diffuse and limited forms of juvenile systemic sclerosis in expanded international cohort. www.juvenile-scleroderma.com . Arthritis Care Res (Hoboken). 2021. [4]Foeldvari I, Klotsche J, Torok KS, Kasapcopur O, Adrovic A, Stanevica V, et al. CHARACTERISTICS OF THE FIRST 80 PATIENTS AT TIMEPOINT OF FIRST ASSESSMENT INCLUDED IN THE JUVENILE SYSTEMIC SCLEROSIS INCEPTION COHORT. WWW.JUVENILESCLERODERMA.COM . Journal of Scleroderma and Related Disorders. 2018;4(1-13). Disclosure of Interests None declared